[Possibility of EEG-diagnosis of heterozygotic Martin-Bell syndrome].
A case of fragile-X syndrome (the Martin-Bell syndrome) in two male half-sibs from different marriages of their mother was described. Both patients suffered from mental retardation and had some characters of the Martin-Bell syndrome. Somatically healthy mother was characterized by IQ-101. The EEG study showed similar changes both in mother and her sons. The diagnostic specificity of the method presented was discussed.
Moskovkina
A G
AG
Blagosklonova
N K
NK
D002648:Child; D004569:Electroencephalography; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008297:Male
O vozmozhnosti EEG-diagnostiki geterozigotnogo nositel'stva sindroma Martina-Bella.